GORHAM, Maine - A mother and daughter from Maine are sharing their unusual story in hopes that others with a family history of cancer - especially breast and ovarian cancer - will consider genetic testing. Jen Bowie and Linda Kelly discovered that they both carried the so-called breast cancer gene, and decided to undergo major surgeries - including double mastectomies, even though neither one had actually been diagnosed with cancer.
Forty-year-old Jen Bowie last year went to her doctor, complaining of pain in her abdomen and abnormalities in her menstrual cycle. Because she also had a family history of ovarian cancer, the doctor suggested that she might want to consider genetic testing. The doctor's office had just become a licensed genetic testing center the week before.
"And I remember thinking at the time, 'Oh geez, this is probably a waste of $300,' " she says, "but I was interested in what the results would be."
It turns out that her pain was caused by a benign cyst. But the genetic test came back positive for BRCA-2, one of the two better-known genetic mutations with a high correlation to developing breast cancer. She was told she had an 85 percent chance of developing breast cancer. Even her physician was surprised by the results.
"I remember when I got the screening, she said, 'Oh it's highly unlikely anything will come back. I don't suspect anything will come back,' " Bowie says, "and I didn't either. So when I sat down to talk to her, yeah, I was very surprised to learn - I was a little shocked, initially."
Shocked for a moment, she says, but then, relieved. "I just immediately felt that I was happy that I knew," she says, "and that it was a gift that I found out and can do something about it."
Bowie is a mom to two rambunctious girls, Anna, age 4, and Julia, who is 2.
She says that, for her, the decision to undergo preventative surgery - a double mastectomy and hysterectomy - was easy. She saw it simply as the best option to not get cancer. But she didn't stop there. She encouraged her mother and father to get the test, too. Her mother, Linda Kelly, who is 67, also tested positive.
"As soon as I found out, I just said, 'This is a no brainer decision. If Angelina Jolie can do this, so can I,' " Kelly says. "And that's what I said to Jen on the phone."
Angelina Jolie is the actress who went public last year with her decision to undergo a double mastectomy after testing positive for the BRCA-1 gene. Jen and Linda's oncologist - Dr. Loren Rourke - says Jolie's decision has clearly raised awareness.
"Since Angelina Jolie went public with her announcement, I can't get through a single clinic day without this coming up by a patient and asking questions about it," Rourke says.
Dr. Susan Meisfeldt is also seeing more referrals. Meisfeldt is a genetic specialist who runs the Cancer Risk and Prevention Program at Maine Medical Center,
"You know, just last year our numbers grew by 25 percent in terms of referrals," Meisfeldt says, "and if I were to compare my first months, years here, it's at least quadrupled as far as number of referrals to clinics."
Only a small percentage of breast cancer cases are linked to the genetic mutations known as BRCA1 and BRCA2 - Meisfeldt says about 3 percent.
So who should consider a genetic test? Meisfeldt says it's intended for people with a family history of ovarian cancer, early onset breast cancer, male breast cancer, or more than one case of breast cancer in a family..
"We should all know our family history," Meisfeldt says. "We should all know the general risk factors for any inherited disease, namely too much of whatever that disease is or unusual circumstances within that individual disease - so within cancer, if you have a strong family history of cancer you should bring it to your physician's attention."
And for those with that strong family history, most insurance plans will now cover genetic testing and counseling. Hilary Schneider is with the American Cancer Society.
"Under the Affordable Care Act, virtually everybody who has private insurance - unless it's a grandfathered plan - will get all of that covered at 100 percent," Schneider says.
Linda Kelly and Jen Bowie had insurance coverage. and they scheduled their surgeries so that they could care for and support one another, alternating their mastectomies, then hysterectomies, then reconstructive surgeries in three-week intervals over the winter.
"It was a long winter, with all the recoveries," Bowie says, "but, at the same time, it was a good feeling knowing that we were taking care of ourselves, improving the quality of our future lives and extending our life span."
Their doctors say Jen and Linda are unusual - not only because of how they dealt with their situation, but also because of how they were diagnosed. Usually a mother will be diagnosed - or die - of breast or ovarian cancer, and then the daughter gets a genetic test and finds out she is at risk as well. This case is the rare happy ending.
"To show a mother and daughter that took some terrifying news and turned it into a good thing speaks volumes. I adore them both," Rourke says.
Jen and Linda didn't have to choose surgery. Dr. Rourke says that, although nothing else lowers risk as much as prophylactic mastectomy, there are other paths, such as enhanced screening.
"Surgery is the most aggressive option, but it's not the only option," Rourke says. "So I always advise my patients to take their time and think it through. This is not a surgery that's reversible, so I want to be sure they're comfortable with their decision."
But other women have told Jen Bowie that they wouldn't have made the choice she did - wouldn't have had the surgery. And she says she understands that.
So it's a personal decision," Bowie says. "Our decision, it was right for us, but it might not be the right decision for somebody else in our situation. It's just nice to know, to know what your options are."
Jen and Linda say while they may not be as famous as Angelina Jolie, they also want to use their story to raise awareness. "We're just everyday people," Bowie says, "and everyday people can do this, too."
Jen's girls have a 50 percent chance of carrying the BRCA-2 mutation. They won't be tested until they're adults. Jen hopes that, by then, they will have better options - or even a cure.
If Jen's daughters carry the BRCA-2 gene mutation, they don't have to pass it on to their children. Dr. Rourke says that now, through in-vitro fertilization, parents can select embryos without the mutation.
